Characterizing the molecular cytogenetics in acute monocytic leukemia.
10.3760/cma.j.issn.1003-9406.2019.06.006
- VernacularTitle:81例急性单核细胞白血病患者的分子遗传学研究
- Author:
Feng ZHOU
1
;
Hongying CHAO
;
Xuzhang LU
;
Tao CHEN
;
Jianhe YANG
;
Naike JIANG
;
Ling CEN
;
Min ZHOU
Author Information
1. Department of Hematology, Changzhou Second People's Hospital Affiliated to Nanjing Medical University, Changzhou, Jiangsu 213003, China. Email: chaohy2006@126.com.
- Publication Type:Journal Article
- MeSH:
Cytogenetics;
Humans;
In Situ Hybridization, Fluorescence;
Leukemia, Monocytic, Acute;
Leukemia, Myeloid, Acute;
Mutation;
Prognosis;
fms-Like Tyrosine Kinase 3
- From:
Chinese Journal of Medical Genetics
2019;36(6):556-560
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To characterize the molecular genetics of 81 patients with acute monocytic leukemia (AML).
METHODS:Fluorescence in situ hybridization (FISH) was employed to detect MLL gene rearrangements. Combined mutations of 17 genes were detected by DNA-based PCR and Sanger sequencing.
RESULTS:Sixty seven patients were found to harbor at least one mutation. The most commonly mutated gene was NPM1 (n=18), which was followed by FLT3-ITD (n=16), NRAS (n=16), DNMT3A (n=15), TET2 (n=12), RUNX1 (n=11) and KRAS (n=9). Based on the functions of mutated genes, the most frequently involved genes were those involved in DNA methylation (38.27%), tyrosine kinase receptor signaling (32.1%), transcription regulation (28.4%), and RAS pathway (24.7%). Single gene mutation predominated in patient with cytogenetic abnormalities, while coexistence of 2 mutations have predominated in patient with normal cytogenetic findings. Stratified by cytogenetic findings, patients with single gene mutations (intermediate-risk group) had significantly higher complete remission (CR) rates than those with ≥2 gene mutations (unfavorable-risk group) (91.7% vs. 57.6% , 87.5% vs. 25.0%, P =0.0319, 0.0117, respectively).
CONCLUSION:Over 80% of AML patients were found to harbor at least one mutation. Their clinical phenotype and prognosis may be impacted by the synergy of MLL gene rearrangement and multiple mutations. For patients under the same risk stratification, the number of mutations is reversely correlated with the CR rate.
